Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study von Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna

Volltext

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases von Stessman, Holly A F, Xiong, Bo, Coe, Bradley P, Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N, Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David G, Scheffer, Ingrid E, Delatycki, Martin B, Lockhart, Paul J, Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A, Eichler, Evan E

Volltext

Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study von Stödberg, Tommy, Tomson, Torbjörn, Anderlid, Britt‐Marie, Andersson, Tomas, Henry, Olivia, Åmark, Per, Wedell, Anna

Volltext

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... von Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M B, Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel

Volltext

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects von Kolbjer, Sintia, Martin, Daniel A., Pettersson, Maria, Dahlin, Maria, Anderlid, Britt-Marie

Volltext

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis von Shahsavani, M, Pronk, R J, Falk, R, Lam, M, Moslem, M, Linker, S B, Salma, J, Day, K, Schuster, J, Anderlid, B-M, Dahl, N, Gage, F H, Falk, A

Volltext

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm von Lindsay, Mark E, Schepers, Dorien, Bolar, Nikhita Ajit, Doyle, Jefferson J, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J E, Fishman, Elliot K, Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdallah F, Levy, Howard P, Anderlid, Britt-Marie, Yang, Margaret H, Bongers, Ernie M H F, Timmermans, Janneke, Braverman, Alan C, Canham, Natalie, Mortier, Geert R, Brunner, Han G, Byers, Peter H, Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C, Loeys, Bart L

Volltext

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4 von Smeds, Henrik, Wales, Jeremy, Karltorp, Eva, Anderlid, Britt-Marie, Henricson, Cecilia, Asp, Filip, Anmyr, Lena, Lagerstedt-Robinson, Kristina, Löfkvist, Ulrika

Volltext

Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in... von Nilsson, Daniel, Pettersson, Maria, Gustavsson, Peter, Förster, Alisa, Hofmeister, Wolfgang, Wincent, Josephine, Zachariadis, Vasilios, Anderlid, Britt‐Marie, Nordgren, Ann, Mäkitie, Outi, Wirta, Valtteri, Käller, Max, Vezzi, Francesco, Lupski, James R, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Carvalho, Claudia M. B., Lindstrand, Anna

Volltext

Tissue specific trisomy 15 mosaicism associated with urogenital malformations von Nordenskjöld, Agneta, Lagerstedt-Robinson, Kristina, Anderlid, Britt-Marie, Lundin, Johanna

Volltext

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT von Kvarnung, Malin, Nilsson, Daniel, Lindstrand, Anna, Korenke, G Christoph, Chiang, Samuel C C, Blennow, Elisabeth, Bergmann, Markus, Stödberg, Tommy, Mäkitie, Outi, Anderlid, Britt-Marie, Bryceson, Yenan T, Nordenskjöld, Magnus, Nordgren, Ann

Volltext

HLA Polymorphism in Regressive and Non‐Regressive Autism: A Preliminary Study von Tamouza, Ryad, Fernell, Elisabeth, Eriksson, Mats Anders, Anderlid, Britt‐Marie, Manier, Céline, Mariaselvam, Christina Mary, Boukouaci, Wahid, Leboyer, Marion, Gillberg, Christopher

Volltext

Letter to the Editor regarding the manuscript “Lissencephaly: Update on diagnostics and clinical management” by Koenig et al. Eur J Paediatr Neurol. 2021; 35; 147-152 von Kolbjer, Sintia, Dahlin, Maria, Anderlid, Britt-Marie

Volltext

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae von Danielsson, Annika, Anderlid, Britt‐Marie, Stödberg, Tommy, Lagerstedt‐Robinson, Kristina, Klackenberg Arrhenius, Eva, Tedroff, Kristina

Volltext

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability von Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt‐Marie, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Lundberg, Elisabeth S.

Volltext

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability von Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Björck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Helgadóttir, Hafdís T., Hellström-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindelöf, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Johansson Soller, Maria, Pettersson, Maria, Nordgren, Ann

Volltext

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia von Dahl, Sara, Pettersson, Maria, Eisfeldt, Jesper, Schroder, Anna Katharina, Wickstrom, Ronny, Fahnehjelm, Kristina Tear, Anderlid, Britt-Marie, Lindstrand, Anna

Volltext

Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity von Pettersson, Maria, Bergendal, Birgitta, Norderyd, Johanna, Nilsson, Daniel, Anderlid, Britt‐Marie, Nordgren, Ann, Lindstrand, Anna

Volltext

Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality von Lam, Matti, Moslem, Mohsen, Bryois, Julien, Pronk, Robin J., Uhlin, Elias, Ellström, Ivar Dehnisch, Laan, Loora, Olive, Jessica, Morse, Rebecca, Rönnholm, Harriet, Louhivuori, Lauri, Korol, Sergiy V., Dahl, Niklas, Uhlén, Per, Anderlid, Britt-Marie, Kele, Malin, Sullivan, Patrick F., Falk, Anna

Volltext

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders von Myers, Lynnea, Anderlid, Britt‐Marie, Nordgren, Ann, Lundin, Karl, Kuja‐Halkola, Ralf, Tammimies, Kristiina, Bölte, Sven

Volltext